Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency

Completed

• Conditions: CTLA4 Haploinsufficiency

• Registration Number: NCT05040256
• Lead Sponsor: University Hospital, Montpellier

Brief Summary

CTLA4 and LRBA deficiencies are rare genetic disorders, recently described, and associated with multiple clinical features. It ranges from recurrent infections, auto-immunity, and organ infiltration with lymphocytes. Neurologic syndroms are described in up to 30% of patients, yet they are poorly defined to date. Early recognition of a specific pattern can be important, given that there is a targeted therapy in this situation.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-02-01
• Study First Submitted: 2021-05-11
• Primary Completion: 2021-08-01
• Study First Submitted QC: 2021-09-01
• Study First Posted: 2021-09-10
• Study Completion: 2021-09-30
• Status Verified: 2021-11
• Last Update Submitted: 2021-11-12
• Last Update Posted: 2021-11-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of Neurologic impairment	1 day	Neurologic signs and symptoms (headaches, seizures...), cerebral MRI features, lumbar puncture, histopathology

Secondary Outcome Measures

Name	Time	Method
Presence of reccurent infections	1 day	Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness

Trial Locations

Locations (1)

Uhmontpellier; 🇫🇷 Montpellier, France